IFT81 (intraflagellar transport 81)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
28981
Gene name Gene Name - the full gene name approved by the HGNC.
Intraflagellar transport 81
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IFT81
Synonyms (NCBI Gene) Gene synonyms aliases
CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs143130309 C>A,T Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs200335504 C>T Pathogenic, likely-pathogenic Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs576969206 T>C,G Likely-pathogenic Coding sequence variant, intron variant, missense variant, non coding transcript variant, stop gained
rs751222088 G>C Likely-pathogenic, pathogenic Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs761469100 C>T Likely-pathogenic Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(49)
miRTarBase ID miRNA Experiments Reference
MIRT018311 hsa-miR-335-5p Microarray 18185580
MIRT1061148 hsa-miR-208a CLIP-seq
MIRT1061149 hsa-miR-208b CLIP-seq
MIRT1061150 hsa-miR-3153 CLIP-seq
MIRT1061151 hsa-miR-3174 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(38)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28428259, 28625565, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605489 14313 ENSG00000122970
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WYA0
Protein name Intraflagellar transport protein 81 homolog (Carnitine deficiency-associated protein expressed in ventricle 1) (CDV-1)
Protein function Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region (PubMed:23
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18383 IFT81_CH 3 → 126 Intraflagellar transport 81 calponin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly
Sequence 
MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQ
TAKRMLSLLGILKYKPSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLAR
FLIKLEVPSEFLQDETVADTNKQYEELMEAFKTLHKEYEQLKISGFSTAEIRKDISAMEE
EKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQKQEQKNQLFHAVQRL
QRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVS
EPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAE
ELQEAKEKLASLEREASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAE
LKAEFGLLQRTEELLKQRHENIQQQLQTMEEKKGISGYSYTQEELERVSALKSEVDEMKG
RTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQECDEKKSQYDSCAAGLE
SNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAI
REQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQT
SIGQVIQEGGEDRLIL
Sequence length 676
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Intraflagellar transport
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Short Rib-Polydactyly Syndrome short-rib thoracic dysplasia 19 with or without polydactyly rs576969206, rs200335504, rs751222088 N/A
Jeune Thoracic Dystrophy jeune thoracic dystrophy rs200335504 N/A
retinal dystrophy Retinal dystrophy rs200335504 N/A
SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY short-rib thoracic dysplasia 19 without polydactyly rs200335504, rs751222088 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 26275418
Cerebellar Diseases Associate 26275418
Ceroid Lipofuscinosis Neuronal 1 Associate 26275418
Ciliopathies Associate 26275418
Growth Disorders Associate 30809043
Nephronophthisis familial juvenile Associate 26275418
Polydactyly Associate 26275418
Retinal Dystrophies Associate 26275418